Zoekresultaten - Prada, Carlos E.

Endothelial dysfunction and preeclampsia: role of oxidative stress door Sánchez-Aranguren, Lissette C., Prada, Carlos E., Riaño-Medina, Carlos E., Lopez, Marcos

Volledige tekst Volledige tekst Volledige tekst

NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy door McTiernan, Nina, Gill, Harinder, Prada, Carlos E., Pachajoa, Harry, Lores, Juliana, Arnesen, Thomas

Volledige tekst Volledige tekst Volledige tekst

Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis door Velasco, Harvy M., Ullah, Ehsan, Martin, Angela M., Hufnagel, Robert B., Prada, Carlos E.

Volledige tekst Volledige tekst Volledige tekst

Determination of Anti-Adeno-Associated Viral Vector Neutralizing Antibodies in Patients With Heart Failure in the Cardiovascular Foundation of Colombia (ANVIAS): Study Protocol door Rincon, Melvin Y, Prada, Carlos E, Lopez, Marcos, Castillo, Victor, Echeverria, Luis Eduardo, Serrano, Norma

Volledige tekst Volledige tekst Volledige tekst

A role for sustained MAPK activity in the mouse ventral telencephalon door Talley, Mary Jo, Nardini, Diana, Qin, Shenyue, Prada, Carlos E., Ehrman, Lisa A., Waclaw, Ronald R.

Volledige tekst Volledige tekst Volledige tekst

Generation of a Mouse Model to Study the Noonan Syndrome Gene Lztr1 in the Telencephalon door Talley, Mary Jo, Nardini, Diana, Shabbir, Nisha, Ehrman, Lisa A., Prada, Carlos E., Waclaw, Ronald R.

Volledige tekst Volledige tekst Volledige tekst

Widespread Vasculopathy in a Patient with Morquio A Syndrome door Powell, Adam W., Taylor, Michael D., Burrow, T. Andrew, Hopkin, Robert J., Prada, Carlos E., Jefferies, John L.

Volledige tekst Volledige tekst Volledige tekst

ZAP-70 is a novel conditional heat shock protein 90 (Hsp90) client: inhibition of Hsp90 leads to ZAP-70 degradation, apoptosis, and impaired signaling in chronic lymphocytic leukem... door Castro, Januario E., Prada, Carlos E., Loria, Olivier, Kamal, Adeela, Chen, Liguang, Burrows, Francis J., Kipps, Thomas J.

Volledige tekst Volledige tekst Volledige tekst

An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist door Mena, Rafael, Mendoza, Esperanza, Peña, Maria Gomez, Valencia, C. Alexander, Ullah, Ehsan, Hufnagel, Robert B., Prada, Carlos E.

Volledige tekst Volledige tekst Volledige tekst

Clinical Utility of Whole-Exome Sequencing in Rare Diseases: Galactosialidosis door Prada, Carlos E., Gonzaga-Jauregui, Claudia, Tannenbaum, Rebecca, Penney, Samantha, Lupski, James R., Hopkin, Robert J., Sutton, V. Reid

Volledige tekst Volledige tekst Volledige tekst

Substantial Pain Burden in Frequency, Intensity, Interference and Chronicity among Children and Adults with Neurofibromatosis Type 1 Pain and NF1 door Kongkriangkai, Alanna M., King, Christopher, Martin, Lisa J., Wakefield, Emily, Prada, Carlos E., Kelly-Mancuso, Geraldine, Schorry, Elizabeth K.

Volledige tekst Volledige tekst Volledige tekst

CD154 induces p73 to overcome the resistance to apoptosis of chronic lymphocytic leukemia cells lacking functional p53 door Dicker, Frank, Kater, Arnon P., Prada, Carlos E., Fukuda, Tetsuya, Castro, Januario E., Sun, Guizhen, Wang, Jean Y., Kipps, Thomas J.

Volledige tekst Volledige tekst Volledige tekst

Hyperleucinosis during infections in maple syrup urine disease post liver transplantation door Guilder, Laura, Prada, Carlos E., Saenz, Sofia, Jain-Ghai, Shailly, Karp, Natalya, Mazariegos, George, Ratko, Suzanne, Salvarinova, Ramona, Mercimek-Andrews, Saadet

Volledige tekst Volledige tekst Volledige tekst

The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1 door Prada, Carlos E., Hufnagel, Robert B., Hummel, Trent R., Lovell, Anne M., Hopkin, Robert J., Saal, Howard M., Schorry, Elizabeth K.

Volledige tekst Volledige tekst Volledige tekst

Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females door Clarkston, Kathryn, Lee, Joy, Donoghue, Sarah, Peters, Heidi, Eiroa, Hernan, Shah, Amit A., Loomes, Kathleen, Wen, Jessica, Oliver, Mark, Hardikar, Winita, Prada, Carlos E., Asai, Akihiro

Volledige tekst Volledige tekst Volledige tekst

CNS, Lung, and Lymph Node involvement in Gaucher disease type 3 after 11 years of therapy: Clinical, Histopathologic, and Biochemical Findings door Burrow, Thomas A, Sun, Ying, Prada, Carlos E, Bailey, Laurie, Zhang, Wujuan, Brewer, Amanda, Wu, Steve W., Setchell, Kenneth D R, Witte, David, Cohen, Mitchell B, Grabowski, Gregory A

Volledige tekst Volledige tekst Volledige tekst

Ophthalmic genetics in South America door Varela, Malena Daich, Moya, Rene, Schlottmann, Patricio G., Hufnagel, Robert B., Arberas, Claudia, Fernández, Federico M., Inga, M. Eugenia, Lores, Juliana, Pachajoa, Harry, Prada, Carlos E., Sallum, Juliana M. Ferraz

Volledige tekst Volledige tekst Volledige tekst

Neurofibroma-associated macrophages play roles in tumor growth and response to pharmacological inhibition door Prada, Carlos E., Jousma, Edwin, Rizvi, Tilat A., Wu, Jianqiang, Dunn, R. Scott, Mayes, Debra A., Cancelas, Jose A., Dombi, Eva, Kim, Mi-Ok, West, Brian L., Bollag, Gideon, Ratner, Nancy

Volledige tekst Volledige tekst Volledige tekst

Stx4 is required to regulate cardiomyocyte Ca(2+) handling during vertebrate cardiac development door Perl, Eliyahu, Ravisankar, Padmapriyadarshini, Beerens, Manu E., Mulahasanovic, Lejla, Smallwood, Kelly, Sasso, Marion Bermúdez, Wenzel, Carina, Ryan, Thomas D., Komár, Matej, Bove, Kevin E., MacRae, Calum A., Weaver, K. Nicole, Prada, Carlos E., Waxman, Joshua S.

Volledige tekst Volledige tekst Volledige tekst

A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay door Laboy Cintron, Dianne, Muir, Alison M., Scott, Abbey, McDonald, Marie, Monaghan, Kristin G., Santiago-Sim, Teresa, Wentzensen, Ingrid M., De Luca, Chiara, Brancati, Francesco, Harris, David J., Goueli, Cecilia, Stottmann, Rolf, Prada, Carlos E., Biderman Waberski, Marta, Mefford, Heather C.

Volledige tekst Volledige tekst Volledige tekst